ErkrankungArachnodaktylie, kongenitale kontrakturale; Differentialdiagnose

NGS +

• Alias: Beals syndrome (FBN2)
• Alias: Congenital contractural arachnodactyly (FBN2)
• Allelic: Macular degeneration, early-onset (FBN2)
• Achondrogenesis, type II or hypochondrogenesis (COL2A1)
• Arthrogryposis, distal, type 1A (TPM2)
• Arthrogryposis, distal, type 1B (MYBPC1)
• Arthrogryposis, distal, type 2A [Freeman-Sheldon] (MYH3)
• Arthrogryposis, distal, type 2B1 (TNNI2)
• Arthrogryposis, distal, type 2B2 (TNNT3)
• Arthrogryposis, distal, type 2B3 [Sheldon-Hall] (MYH3)
• Arthrogryposis, distal, type 2B4 (TPM2)
• Arthrogryposis, distal, type 3 (PIEZO2)
• Arthrogryposis, distal, type 5 (PIEZO2)
• Arthrogryposis, distal, type 5D Arthrogryposis, distal, type 5D (ECEL1)
• Arthrogryposis, distal, with impaired proprioception a+ touch (PIEZO2)
• Bethlem myopathy 1 (COL6A1, COL6A2, COL6A3)
• Bethlem myopathy 2 (COL12A1)
• Boudin-Mortier syndrome (NPR3)
• Bruck syndrome 1 (FKBP10)
• Bruck syndrome 2 (PLOD2)
• Congenital contractures of the limbs + face, hypotonia + developmental delay (NALCN)
• Contractural arachnodactyly, congenital (FBN2)
• Contractures, pterygia + spondylocarpostarsal fusion syndrome 1A (MYH3)
• Contractures, pterygia + spondylocarpotarsal fusion syndrome 1B (MYH3)
• Czech dysplasia (COL2A1)
• Epiphyseal dysplasia, multiple, 2 (COL9A2)
• Epiphyseal dysplasia, multiple, 3, with/-out myopathy (COL9A3)
• Epiphyseal dysplasia, multiple, 6 (COL9A1)
• Epiphyseal dysplasia, multiple, with myopia + deafness (COL2A1)
• Fibrochondrogenesis 1 (COL11A1)
• Fibrochondrogenesis 2 (COL11A2)
• Homocystinuria, B6-responsive + nonresponsive types (CBS)
• Kniest dysplasia (COL2A1)
• Legg-Calve-Perthes disease (COL2A1)
• Lethal congenital contracture syndrome 4 (MYBPC1)
• Loeys-Dietz syndrome 1 (TGFBR1)
• Loeys-Dietz syndrome 2 (TGFBR2)
• Loeys-Dietz syndrome 3 (SMAD3)
• Loeys-Dietz syndrome 4 (TGFB2)
• Loeys-Dietz syndrome 5 (TGFB3)
• Loeys-Dietz syndrome [MONDO:0018954] (SMAD2)
• MASS syndrome (FBN1)
• Marden-Walker syndrome (PIEZO2)
• Marfan syndrome (FBN1)
• Marshall syndrome (COL11A1)
• Myosclerosis, congenital (COL6A2)
• Osteogenesis imperfecta, type XI (FKBP10)
• Otospondylomegaepiphyseal dysplasia, AD + AR (COL11A2)
• Platyspondylic skeletal dysplasia, Torrance type (COL2A1)
• SED congenita (COL2A1)
• SMED Strudwick type (COL2A1)
• Spondyloepiphyseal dysplasia, Stanescu type (COL2A1)
• Spondyloperipheral dysplasia (COL2A1)
• Stickler syndrome, type I (COL2A1)
• Stickler syndrome, type II (COL11A1)
• Stickler syndrome, type IV (COL9A1)
• Stickler syndrome, type V (COL9A2)
• Trismus-pseudocamptodactyly syndrome (MYH8)
• Ullrich congenital muscular dystrophy 1 (COL6A1, COL6A2, COL6A3)
• Ullrich congenital muscular dystrophy 2 (COL12A1)
• Van den Ende-Gupta syndrome (SCARF2)